Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
TUBB6 Q9BUF5 tubulin beta 6 class V Cellular structure 1.7E-04 0.686 0.462
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500
SLC20A2 Q08357 solute carrier family 20 member 2 Transporter 0.97 0.638 0.577
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
FAM120AOS Q5T036 family with sequence similarity 120A opposite strand 2.2E-02 0.861 0.154